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  3. CENPF
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Joubert syndrome and other neurological ciliopathies

Gene: CENPF

Amber List (moderate evidence)
CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 11 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Stromme syndrome is well reported as a ciliopathy phenotype with some overlapping JS features although does not seem to be consistent between patients. Amber for this panel

PMID: 25564561; Waters 2015; 2 families reported. Ciliopathy features such as cerebellar vermis hypoplasia and cleft palate reported in one family. Functional studies performed.
PMID: 28407396; Ozkinay 2017; 1 family reported. Brain MRI showed lissecephaly.
PMID: 26820108; Filges 2016; 2 families reported.
Sources: Expert Review
Created: 18 May 2020, 5:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stromme syndrome (MIM#243605)

Publications

Created: 18 May 2020, 5:57 a.m.

Panel version: 0.62

History Filter Activity

3 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cenpf has been classified as Amber List (Moderate Evidence).

3 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cenpf has been classified as Amber List (Moderate Evidence).

18 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: CENPF was added gene: CENPF was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 25564561; 28407396; 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome (MIM#243605) Review for gene: CENPF was set to AMBER